ClinGen Classification:
Classification
Uncertain Significance
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
Revel Score:
ENST00000344691
0.500
ENST00000300305
0.500
ENST00000437180
0.500
ENST00000325074
0.500
ENST00000399240
0.500
ENST00000431176
0.500
ENST00000399245
0.500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792485C>T , CM000683.2:g.34792485C>T | GRCh38 |
| NC_000021.8:g.36164782C>T , CM000683.1:g.36164782C>T | GRCh37 |
| NC_000021.7:g.35086652C>T | NCBI36 |
| NG_011402.2:g.1197227G>A , LRG_482:g.1197227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1093G>A MANE Select | ENSP00000501943.1:p.Gly365Ser | |
| ENST00000300305.7:c.1093G>A | ENSP00000300305.3:p.Gly365Ser | |
| ENST00000344691.8:c.1012G>A | ENSP00000340690.4:p.Gly338Ser | |
| ENST00000399240.5:c.820G>A | ENSP00000382184.1:p.Gly274Ser | |
| ENST00000437180.5:c.1093G>A | ENSP00000409227.1:p.Gly365Ser | |
| ENST00000482318.5:c.*683G>A | ENSP00000477067.1:n.*683G>A | |
| NM_001001890.2:c.1012G>A | NP_001001890.1:p.Gly338Ser | |
| NM_001754.4:c.1093G>A , LRG_482t1:c.1093G>A | NP_001745.2:p.Gly365Ser | |
| XM_005261068.3:c.1057G>A | XP_005261125.1:p.Gly353Ser | |
| XM_005261069.3:c.901G>A | XP_005261126.1:p.Gly301Ser | |
| XM_011529766.1:c.1093G>A | XP_011528068.1:p.Gly365Ser | |
| XM_011529767.1:c.1054G>A | XP_011528069.1:p.Gly352Ser | |
| XM_011529768.1:c.862G>A | XP_011528070.1:p.Gly288Ser | |
| XM_005261069.4:c.901G>A | XP_005261126.1:p.Gly301Ser | |
| XM_011529766.2:c.1093G>A | XP_011528068.1:p.Gly365Ser | |
| XM_011529767.2:c.1054G>A | XP_011528069.1:p.Gly352Ser | |
| XM_011529768.2:c.862G>A | XP_011528070.1:p.Gly288Ser | |
| XM_017028487.1:c.940G>A | XP_016883976.1:p.Gly314Ser | |
| NM_001001890.3:c.1012G>A | NP_001001890.1:p.Gly338Ser | |
| NM_001754.5:c.1093G>A MANE Select | NP_001745.2:p.Gly365Ser |